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Nlgn2tm1.1Gchn
Targeted Allele Detail
Summary
Symbol: Nlgn2tm1.1Gchn
Name: neuroligin 2; targeted mutation 1.1, Gong Chen
MGI ID: MGI:6158645
Synonyms: Nlgn2R215H
Gene: Nlgn2  Location: Chr11:69713949-69728610 bp, - strand  Genetic Position: Chr11, 42.89 cM
Alliance: Nlgn2tm1.1Gchn page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:272181
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  (129S/SvEv x C57BL/6J)F1
Mutation
description
Allele Type:    Targeted (Conditional ready, Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA loxP site and an FRT-flanked PGK-neomycin cassette (in reverse transcriptional orientation) are placed in intron 3 along with a loxP site in intron 7 (thus flanking exons 4-7 with loxP sites). In addition, an Arg215His (R215H amino acid; G644A nucleotide) mutation is introduced to exon 4 of the gene. Flp-mediated recombination removed the FRT-flanked neo cassette. The Arg215His (R215H) loss-of-function point mutation in the human gene has been identified in schizophrenia patients. (J:101977, J:272181)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Nlgn2 Mutation:  35 strains or lines available
References
Original:  J:272181 Jiang DY, et al., GABAergic deficits and schizophrenia-like behaviors in a mouse model carrying patient-derived neuroligin-2 R215H mutation. Mol Brain. 2018 Jun 1;11(1):31
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory